Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
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DOI：
10.1038/s41467-022-30496-0
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发表时间：
2022-06-15
影响因子：
16.6
通讯作者：
中科院分区：
文献类型：
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作者：
There are more than 70 distinct sarcomas, and this diversity complicates the development of precision-based therapeutics for these cancers. Prospective comprehensive genomic profiling could overcome this challenge by providing insight into sarcomas’ molecular drivers. Through targeted panel sequencing of 7494 sarcomas representing 44 histologies, we identify highly recurrent and type-specific alterations that aid in diagnosis and treatment decisions. Sequencing could lead to refinement or reassignment of 10.5% of diagnoses. Nearly one-third of patients (31.7%) harbor potentially actionable alterations, including a significant proportion (2.6%) with kinase gene rearrangements; 3.9% have a tumor mutational burden ≥10 mut/Mb. We describe low frequencies of microsatellite instability (<0.3%) and a high degree of genome-wide loss of heterozygosity (15%) across sarcomas, which are not readily explained by homologous recombination deficiency (observed in 2.5% of cases). In a clinically annotated subset of 118 patients, we validate actionable genetic events as therapeutic targets. Collectively, our findings reveal the genetic landscape of human sarcomas, which may inform future development of therapeutics and improve clinical outcomes for patients with these rare cancers. Comprehensive molecular profiles are required to understand and treat sarcomas, which comprise more than 70 different subtypes. Here, the authors profile the genomic landscape of 7494 sarcomas across 44 histologies using targeted panel sequencing and identify potential therapeutic targets.
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影响因子：
5.8
作者：
Boussemart, Lise;Nelson, Annie;Schrock, Alexa B.
通讯作者：
Schrock, Alexa B.
DOI：
10.1158/1078-0432.ccr-19-2631
发表时间：
2020-03-01
期刊：
Clinical cancer research : an official journal of the American Association for Cancer Research
影响因子：
--
作者：
Casey DL;Wexler LH;Pitter KL;Samstein RM;Slotkin EK;Wolden SL
通讯作者：
Wolden SL
DOI：
10.1016/j.annonc.2020.08.2232
发表时间：
2020-11
期刊：
Annals of oncology : official journal of the European Society for Medical Oncology
影响因子：
--
作者：
Demetri GD;Antonescu CR;Bjerkehagen B;Bovée JVMG;Boye K;Chacón M;Dei Tos AP;Desai J;Fletcher JA;Gelderblom H;George S;Gronchi A;Haas RL;Hindi N;Hohenberger P;Joensuu H;Jones RL;Judson I;Kang YK;Kawai A;Lazar AJ;Le Cesne A;Maestro R;Maki RG;Martín J;Patel S;Penault-Llorca F;Premanand Raut C;Rutkowski P;Safwat A;Sbaraglia M;Schaefer IM;Shen L;Serrano C;Schöffski P;Stacchiotti S;Sundby Hall K;Tap WD;Thomas DM;Trent J;Valverde C;van der Graaf WTA;von Mehren M;Wagner A;Wardelmann E;Naito Y;Zalcberg J;Blay JY
通讯作者：
Blay JY
DOI：
10.1056/nejmoa1007056
发表时间：
2010-10-28
期刊：
The New England journal of medicine
影响因子：
--
作者：
Butrynski JE;D'Adamo DR;Hornick JL;Dal Cin P;Antonescu CR;Jhanwar SC;Ladanyi M;Capelletti M;Rodig SJ;Ramaiya N;Kwak EL;Clark JW;Wilner KD;Christensen JG;Jänne PA;Maki RG;Demetri GD;Shapiro GI
通讯作者：
Shapiro GI
使用下一代 DNA 测序数据进行变异发现和基因分型的框架。
影响因子：
30.8
作者：
通讯作者：
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